retrospective analysis of the neonatal management of patients with an antenatal diagnosis of genital development variation at the hospital of lyon

Conditions: Endocrinology; Disorders of Sexual Development; Prenatal Diagnosis; Psychology; Gonadal Dysgenesis; Androgen Abnormalities; Hypospadias; Bladder Extrophy; Androgen Overproduction; Gonadal Development Abnormalities; Turner Syndrome; Klinefelter's Syndrome; Mixed Gonadal Dysgenesis; Ovotestis; Chimera

Summary: variations in genital development (vdg) account for 0.5% to 1% of births. advances in ultrasound techniques, as well as in prenatal diagnosis techniques, particularly in genetics, have led to improvements in the prenatal diagnosis of these pathologies. however, to date, there is no consensus on etiological research and standardized management of these patients and their families, once vdg has been detected. the value of multidisciplinary management has already been demonstrated, but a number of grey areas remain: the frequency of false-positive ultrasound findings, the place of invasive antenatal diagnostic tests, the role left to parents during the diagnostic process, the frequency of associated malformations discovered post-natally, and how to prepare for immediate management at birth. the aim of this study is to improve the management of patients and their families as soon as a disorders of sexual development is detected antenatally. the primary objective is to describe the management, particularly complementary investigations performed in the antenatal management of ultrasound diagnoses of disorders of sexual development over the last 10 years. the secondary objectives are : * to determine the correlation between pre- and post-natal morphological phenotype and the proportion of false positives in antenatal ultrasound diagnosis. * to characterize prenatally diagnosed disorders of sexual development * to determine the proportion of isolated prenatally-diagnosed disorders of sexual development that turn out not to be isolated during postnatal follow-up. * the evaluation of the care pathway : * to establish the frequency of prenatal psychological support for parents * to establish the role of parents in prenatal diagnosis strategy decisions at our center


Eligibility criteria:
inclusion criteria: fetuse of the hospital femme-mère-enfant, the hospital croix rousse and lyon-sud hospital, reffered to pluridisciplinary centers for prenatal diagnosis (cpdpns) for antenatal diagnosis (dan) for a suspected isolated disorders of sexual development (dsd) from january 2013 to december 2022. intrauterine growth retardation (rciu), a muscular or minor ventricular septal defect, or a pyloric dilatation are not considered as an associated malformation. exclusion criteria: * no follow-up file at the cpdpn of the hospital femme-mère-enfant, the hospital croix rousse or of lyon-sud hospital. * lack of data and identification of the child born. * referred to cpdpn for urinary malformation including no vdg.

Keywords: endocrinology disorders of sexual development prenatal diagnosis psychology gonadal dysgenesis androgens hypospadias bladder extrophy sexual development turner syndrome klinefelter's syndrome gonadal dysgenesis, mixed ovotesticular disorders of sex development chimera